Search Results - "Medical genetics"

Novel variants of ABCA4 in Han Chinese families with Stargardt disease by Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu

Connect to this object online.

Correction to: Screening and computational analysis of colorectal associated non-synonymous polymorphism in CTNNB1 gene in Pakistani population by S. Razak, N. Bibi, J. A. Dar, T. Afsar, A. Almajwal, Z. Parveen, S. Jahan

Connect to this object online.

Von Recklinghausen Neurofibromatosis by J Gordon Millichap

Connect to this object online.

EEG in Wolf-Hirschhorn/Pitt-Rogers-Danks Syndromes by J Gordon Millichap

Connect to this object online.

Juvenile Multiple Sclerosis by J Gordon Millichap

Connect to this object online.

Genetic Factors in Febrile Seizures by J Gordon Millichap

Connect to this object online.

Congenital Myasthenia and Facial Malformations by J Gordon Millichap

Connect to this object online.

Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family by Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E.C. Cole

Connect to this object online.

Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report by Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh

Connect to this object online.

Correction to: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10 by Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadheland, Xue Zhang

Connect to this object online.

Familial Spinal Neurofibromatosis by J Gordon Millichap

Connect to this object online.

Correction to: Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report by Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii

Connect to this object online.

Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma by Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder, Douglas L. Riegert-Johnson

Connect to this object online.

Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene by Mejía Granados DM, de Baptista MB, Bonadia LC, Bertuzzo CS, Steiner CE

Connect to this object online.

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas by Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M

Connect to this object online.

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family by Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo, Yan Liang

Connect to this object online.

Novel mutations in HSF4 cause congenital cataracts in Chinese families by Zongfu Cao, Yihua Zhu, Lijuan Liu, Shuangqing Wu, Bing Liu, Jianfu Zhuang, Yi Tong, Xiaole Chen, Yongqing Xie, Kaimei Nie, Cailing Lu, Xu Ma, Juhua Yang

Connect to this object online.

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study by Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma

Connect to this object online.

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China by Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong

Connect to this object online.

Klippel-Feil syndrome in an infant by Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang, Ana María González Anta

Connect to this object online.